Canonical Allele Identifier: CA384959809
Gene: KRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53069242C>G (hg19) chr12:g.52675458C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675458C>G , CM000674.2:g.52675458C>G GRCh38
NC_000012.11:g.53069242C>G , CM000674.1:g.53069242C>G GRCh37
NC_000012.10:g.51355509C>G NCBI36
NG_008364.1:g.9950G>C
NG_008364.2:g.9950G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1670G>C MANE Select ENSP00000252244.3:p.Ser557Thr
NM_006121.3:c.1670G>C NP_006112.3:p.Ser557Thr
NM_006121.4:c.1670G>C MANE Select NP_006112.3:p.Ser557Thr
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